Hereditary motor and sensory neuropathy, X‐linked

作者：Marvin P. Rozear, Margaret A. Pericak‐Vance, K. H. Fischbeck, J. M. Stajich, Perry C. Gaskell, David A. Krendel, D. G. Graham, Deborah V. Dawson, Allen D. Roses · 发表于：Neurology · 年份：1987 · DOI：10.1212/wnl.37.9.1460 · 被引用次数：118 · 研究领域：Hereditary Neurological Disorders、Cellular transport and secretion、Cardiomyopathy and Myosin Studies

The existence of an X-linked sensorimotor peripheral neuropathy has been debated. We reevaluated the original family, and present data on 13 affected males and 25 obligate or probable heterozygous females, documenting the devastating nature of the disease in the men and the extremely variable degree of clinical involvement in the carriers. Use of DNA probes indicates that the gene lies in the DXYS1-p58-1 region of the X-chromosome.